Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
REG1P	0	broad.mit.edu	37	2	79365098	79365098	+	RNA	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:79365098C>T	ENST00000444841.1	-	0	160																											CTCACCTTGGCTCAGAGACAG	0.493000													4	32					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110206636	110206636	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110206636G>A	ENST00000538780.1	+	3	1618	c.902G>A	c.(901-903)cGt>cAt	p.R301H	FAM222A_ENST00000358906.3_Missense_Mutation_p.R301H|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	301																	CAGCCACTGCGTGCCTACAGT	0.711000													6	7					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15272961	15272961	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:15272961C>A	ENST00000546332.1	-	4	663	c.180G>T	c.(178-180)tgG>tgT	p.W60C	ASB9_ENST00000380483.3_Missense_Mutation_p.W60C|ASB9_ENST00000380488.4_Missense_Mutation_p.W60C|ASB9_ENST00000380485.3_Missense_Mutation_p.W60C|ASB9_ENST00000473862.1_5'UTR	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	60					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TGTTCACAGCCCACCCCTGAA	0.502000													5	123					0.014758	0.0149358	1	1	0
HGS	9146	broad.mit.edu	37	17	79653378	79653378	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:79653378C>T	ENST00000329138.4	+	3	294	c.159C>T	c.(157-159)gtC>gtT	p.V53V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	53	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAAGAAAGTCAACGACAAGA	0.478000													62	12					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	76					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110234489	110234489	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110234489C>T	ENST00000418703.2	-	6	1267	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	TRPV4_ENST00000541794.1_Silent_p.R344R|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000536838.1_Silent_p.R357R|TRPV4_ENST00000392719.2_Silent_p.R344R|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000261740.2_Silent_p.R391R	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	391					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCACCTCCCGCCGGATGATGT	0.622000													28	43					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15272962	15272962	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:15272962C>A	ENST00000546332.1	-	4	662	c.179G>T	c.(178-180)tGg>tTg	p.W60L	ASB9_ENST00000380483.3_Missense_Mutation_p.W60L|ASB9_ENST00000380488.4_Missense_Mutation_p.W60L|ASB9_ENST00000380485.3_Missense_Mutation_p.W60L|ASB9_ENST00000473862.1_5'UTR	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	60					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTCACAGCCCACCCCTGAAG	0.502000													5	122					0.014758	0.0149358	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176016580	176016580	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:176016580A>G	ENST00000510636.1	+	24	3443	c.3169A>G	c.(3169-3171)Aag>Gag	p.K1057E	CDHR2_ENST00000261944.5_Missense_Mutation_p.K1057E|CDHR2_ENST00000506348.1_Missense_Mutation_p.K1057E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1057	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCCACACCGAAGGAGGAGGT	0.647000													16	46					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923451	78923451	+	Missense_Mutation	SNP	C	C	T	rs149832833	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:78923451C>T	ENST00000261751.3	-	4	437	c.326G>A	c.(325-327)cGc>cAc	p.R109H	CHRNB4_ENST00000412074.2_Missense_Mutation_p.R109H|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	109					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CAACCAGATGCGCTTTGCAGG	0.592000													4	104					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45391874	45391874	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:45391874G>A	ENST00000389039.6	-	25	3786	c.3401C>T	c.(3400-3402)gCt>gTt	p.A1134V	DUOX2_ENST00000603300.1_Missense_Mutation_p.A1134V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1134	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGGACAACAGCAGCCATGGC	0.557000													38	63					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140773541	140773541	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:140773541C>T	ENST00000371372.1	+	2	465	c.320C>T	c.(319-321)gCc>gTc	p.A107V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A107V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A107V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A107V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A107V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	107					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACCATCATCGCCAACTGCATC	0.647000													8	39					0	0	1	0	0
RP11-262H14.1	0	broad.mit.edu	37	9	66459898	66459898	+	RNA	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:66459898A>G	ENST00000424345.1	+	0	158																											cagtgtctggacattaaaatc	0.378000													4	8					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49845343	49845343	+	Silent	SNP	G	G	A	rs140312372	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:49845343G>A	ENST00000376088.3	+	8	1337	c.696G>A	c.(694-696)gcG>gcA	p.A232A	CLCN5_ENST00000376091.3_Silent_p.A232A|CLCN5_ENST00000376108.3_Silent_p.A162A|CLCN5_ENST00000307367.2_Silent_p.A162A	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	162					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGGTGTTTGCGCCTTATGCCT	0.408000													20	43					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12952782	12952782	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:12952782G>A	ENST00000235347.4	-	4	1469	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	464										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGATGGCCATGAGCCA	0.517000													30	7					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123838998	123838998	+	Missense_Mutation	SNP	G	G	T	rs138121113		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:123838998G>T	ENST00000422452.2	-	5	943	c.880C>A	c.(880-882)Cct>Act	p.P294T	TENM1_ENST00000371130.3_Missense_Mutation_p.P294T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CGAGGAAGAGGCCTGGGAGGG	0.522000													10	193					0.00829132	0.00870588	1	1	0
CAMK2B	816	broad.mit.edu	37	7	44268464	44268464	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:44268464C>T	ENST00000395749.2	-	19	1475	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000457475.1_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	467					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGGGCCCTCGGCTTCTGGG	0.652000													16	27					0	0	1	0	0
MT-RNR2	0	broad.mit.edu	37	MT	1969	1969	+	RNA	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrM:1969G>A	ENST00000387347.2	+	0	299					NR_039705.1																						AGCAAAATAGTGGGAAGATTT	0.443000													5	85					0	0	1	0	0
C6orf70	0	broad.mit.edu	37	6	170176736	170176736	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:170176736G>A	ENST00000588451.1	+	15	1811	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	C6orf70_ENST00000418781.3_Intron|C6orf70_ENST00000366773.3_Missense_Mutation_p.R569H|C6orf70_ENST00000366772.2_Intron|C6orf70_ENST00000392095.4_Missense_Mutation_p.R443H			Q5T6L9	CF070_HUMAN		569						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CTGCGGTCTCGCCAGCGGCAG	0.597000													19	29					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													6	15					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5693326	5693326	+	Splice_Site	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:5693326C>T	ENST00000357700.6	-	3	258	c.231_splice	c.e3-1	p.V78_splice	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	78					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CGAGCATCCACCTCACGGGAG	0.567000													14	18					0	0	1	0	0
PCDHA4	0	broad.mit.edu	37	5	140188315	140188315	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:140188315G>A	ENST00000530339.1	+	1	1543	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G515S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G515S|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGAGAGCGGCAAGGTGTA	0.677000													128	96					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50955098	50955098	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:50955098G>A	ENST00000374103.4	-	9	1229	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	OGDHL_ENST00000419399.1_Missense_Mutation_p.R325C|OGDHL_ENST00000432695.1_Missense_Mutation_p.R173C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCATCTCCACGGTAGAACTGC	0.642000													44	76					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													6	37					0.000442599	0.000476645	1	1	0
IRX6	79190	broad.mit.edu	37	16	55362885	55362885	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:55362885C>T	ENST00000290552.7	+	5	2327	c.995C>T	c.(994-996)gCg>gTg	p.A332V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	332						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTCCTCTCGGCGGAGACAGGC	0.632000													5	75					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885521	60885521	+	Silent	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:60885521C>A	ENST00000252999.3	-	76	10620	c.10554G>T	c.(10552-10554)ctG>ctT	p.L3518L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3518					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCCGCCTCCAGGGGGCCCA	0.682000													22	72					7.41877e-09	8.42131e-09	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31599134	31599134	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:31599134G>A	ENST00000376033.2	+	16	2918	c.2684G>A	c.(2683-2685)gGg>gAg	p.G895E	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G895E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	895	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGCTGACGGGGCCAGAAGCA	0.667000													21	28					0	0	1	0	0
MST1L	0	broad.mit.edu	37	1	17084755	17084755	+	RNA	SNP	T	T	C	rs140682808	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:17084755T>C	ENST00000455405.2	-	0	261																											ACTGCTCCTTTACTAGAGACC	0.577000													3	31					0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27535950	27535950	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27535950T>C	ENST00000380044.1	-	3	152	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	MPV17_ENST00000405076.1_Missense_Mutation_p.I33V|MPV17_ENST00000233545.2_Missense_Mutation_p.I33V|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Missense_Mutation_p.I33V|MPV17_ENST00000405983.1_Missense_Mutation_p.I48V|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.I33V	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	33					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGAGATAATGTCACCC	0.592000													37	55					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928766	32928766	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:32928766A>G	ENST00000361627.3	+	12	2514	c.1792A>G	c.(1792-1794)Aaa>Gaa	p.K598E	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K409E|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K409E	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	598					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GACTTTGGTGAAAGTTCAAAA	0.373000													17	25					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325831	37325831	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr22:37325831T>C	ENST00000262825.5	+	6	917	c.700T>C	c.(700-702)Tgc>Cgc	p.C234R	CSF2RB_ENST00000403662.3_Missense_Mutation_p.C234R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.C234R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.C175R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	234					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGAGGTTTGCTGGGACTC	0.657000													18	19					0	0	1	0	0
STX3	6809	broad.mit.edu	37	11	59559673	59559673	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:59559673C>T	ENST00000535361.1	+	6	998	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	STX3_ENST00000337979.4_Missense_Mutation_p.R151W|STX3_ENST00000437946.2_Missense_Mutation_p.R54W|STX3_ENST00000529177.1_Missense_Mutation_p.R151W|STX3_ENST00000300150.7_Missense_Mutation_p.R120W			Q13277	STX3_HUMAN	syntaxin 3	151					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GCGAATCCAGCGGCAGCTCGA	0.527000													17	37					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27449457	27449457	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27449457G>T	ENST00000264705.4	+	14	2258	c.2096G>T	c.(2095-2097)gGt>gTt	p.G699V	CAD_ENST00000403525.1_Missense_Mutation_p.G636V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	699	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAGGCCACAGGTTATCCACTG	0.522000													34	43					1.45844e-13	1.6782e-13	1	1	0
ESPNP	0	broad.mit.edu	37	1	17029267	17029267	+	RNA	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:17029267G>A	ENST00000492551.1	-	0	1098					NR_026567.1																						TCAGCTGCCTGTGGTCCCACA	0.652000													23	164					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61774882	61774882	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr8:61774882G>A	ENST00000423902.2	+	36	8437	c.7958G>A	c.(7957-7959)cGa>cAa	p.R2653Q	CHD7_ENST00000524602.1_Missense_Mutation_p.R604Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2653					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTCAATAAACGAAATGGGAAG	0.398000													4	14					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52521021	52521021	+	Silent	SNP	G	G	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr14:52521021G>T	ENST00000216286.5	-	4	785	c.786C>A	c.(784-786)atC>atA	p.I262I	NID2_ENST00000541773.1_Silent_p.I209I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	262	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACTCCAGGGATCCCCAGGT	0.483000													24	5					3.6726e-16	4.2847e-16	1	1	0
HOXA13	3209	broad.mit.edu	37	7	27237844	27237844	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:27237844G>A	ENST00000222753.4	-	2	1168	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	380					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GTTTGTTGATGACTTTTTTCT	0.423000			T	NUP98	AML								71	106					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:179411904G>A	ENST00000589042.1	-	340	94572	c.94348C>T	c.(94348-94350)Cgt>Tgt	p.R31450C	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29809	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGTATTACGTTCTTTCTTC	0.423000													95	135					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411431	63411431	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:63411431T>A	ENST00000330258.3	-	2	2008	c.1736A>T	c.(1735-1737)gAg>gTg	p.E579V	AMER1_ENST00000403336.1_Missense_Mutation_p.E579V|AMER1_ENST00000374869.3_Missense_Mutation_p.E579V	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTCCTGGGCCTCAAGCTGCTC	0.612000													4	83					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35035360	35035360	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:35035360G>A	ENST00000231420.6	-	5	748	c.548C>T	c.(547-549)gCg>gTg	p.A183V		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	183					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTTTGAGTGCGCCCTGGCCAT	0.433000													19	80					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6101114	6101114	+	Silent	SNP	G	G	A	rs149847513	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6101114G>A	ENST00000261405.5	-	38	6923	c.6669C>T	c.(6667-6669)aaC>aaT	p.N2223N		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2223	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGAGCTCACGTTGCCATCAC	0.552000													24	28					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								11	30					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134260173	134260173	+	Splice_Site	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:134260173C>A	ENST00000457545.2	+	7	775	c.513_splice	c.e7-1	p.A172_splice	AKR1B15_ENST00000423958.1_Splice_Site_p.A144_splice	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	172							oxidoreductase activity	p.A190V(1)|p.A144V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTATGATAGGCCATGGAGGAG	0.517000													6	48					5.9392e-07	6.6519e-07	1	1	0
RP11-262H14.1	0	broad.mit.edu	37	9	66468755	66468755	+	RNA	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:66468755T>C	ENST00000424345.1	+	0	2322																											gtgatgcctatctgacctctc	0.493000													4	3					0	0	1	0	0
NXF4	0	broad.mit.edu	37	X	101804913	101804913	+	RNA	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:101804913A>G	ENST00000360035.2	+	0	21					NR_002216.1															endometrium(2)|lung(8)	10						GGACTCCCTCAGTGTGTTGTC	0.542000													27	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579389	7579389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7579389G>A	ENST00000420246.2	-	4	430	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q100*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q100*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	100	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q -> R (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q100*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGGTTTTCTGGGAAGGGACA	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			71	24					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47050735	47050735	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:47050735G>A	ENST00000450053.3	+	54	8369	c.8190G>A	c.(8188-8190)aaG>aaA	p.K2730K	NBEAL2_ENST00000383740.2_Silent_p.K979K|NBEAL2_ENST00000292309.5_Silent_p.K2546K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2730							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCGCGCGGAAGCTGTGGCGGT	0.697000													6	5					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109087815	109087815	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:109087815C>G	ENST00000309863.6	+	6	2744	c.2030C>G	c.(2029-2031)tCt>tGt	p.S677C		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	677					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGTTCTCTCTGAAGACAAA	0.333000													57	99					0	0	1	0	0
RP11-262H14.1	0	broad.mit.edu	37	9	66458198	66458198	+	RNA	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:66458198C>G	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							taaccagtcccgaccctgctt	0.622000													3	11					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234378	84234378	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:84234378C>T	ENST00000536636.1	+	3	1563	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	PRSS35_ENST00000369700.3_Silent_p.N406N	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	406	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TTCACGGGAACGATGCCAATT	0.498000													21	24					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131515492	131515492	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:131515492C>A	ENST00000291900.2	-	4	1103	c.697G>T	c.(697-699)Gac>Tac	p.D233Y		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	233					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCGGACAGGTCCATGTTGTAG	0.642000													11	3					3.07112e-06	3.39439e-06	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993983	140993983	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:140993983C>A	ENST00000285879.4	+	4	1079	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	265							protein binding	p.Q265K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTGCCCAGTCTTCTCT	0.488000										HNSCC(15;0.026)			5	164					0.014758	0.0149358	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906237	144906237	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:144906237A>G	ENST00000370490.1	+	1	6549	c.2294A>G	c.(2293-2295)gAa>gGa	p.E765G	SLITRK2_ENST00000447897.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E765G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	765						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGTCAAGGAACTTCCCAGC	0.478000													20	267					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188327559	188327559	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:188327559C>G	ENST00000312675.4	+	6	1286	c.1040C>G	c.(1039-1041)cCa>cGa	p.P347R	LPP_ENST00000543006.1_Missense_Mutation_p.P347R|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.P347R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	347	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGGATGTATCCAGTCACTGGT	0.522000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								33	56					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													5	36					8.12818e-05	8.86711e-05	1	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13941049	13941049	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:13941049T>C	ENST00000254323.2	+	13	2344	c.2155T>C	c.(2155-2157)Ttc>Ctc	p.F719L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F553L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	719							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GTATTCCTTATTCACACCAGT	0.602000													34	11					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268692	30268692	+	Missense_Mutation	SNP	G	G	T	rs2856741		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:30268692G>T	ENST00000378981.3	+	4	403	c.82G>T	c.(82-84)Gct>Tct	p.A28S	MAGEB1_ENST00000397548.2_Missense_Mutation_p.A28S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A28S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	28				A -> R (in Ref. 1; CAA57889).						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCTCAAGGTTGCTCACGCCAC	0.602000													7	24					0.00198382	0.00210938	1	1	0
CARD11	84433	broad.mit.edu	37	7	2953022	2953022	+	Missense_Mutation	SNP	C	C	T	rs141681466		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:2953022C>T	ENST00000396946.4	-	22	3321	c.2918G>A	c.(2917-2919)cGc>cAc	p.R973H		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	973	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGGCCGGCGGCGCTCGCAGTA	0.647000			Mis		DLBCL								49	71					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126672148	126672148	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:126672148G>A	ENST00000359653.4	+	8	2170	c.1799G>A	c.(1798-1800)cGa>cAa	p.R600Q		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	600	TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TATGGCAACCGAGGTGCTGGT	0.468000													24	44					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39981249	39981249	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:39981249A>T	ENST00000373257.3	+	10	1458	c.1367A>T	c.(1366-1368)aAa>aTa	p.K456I		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	456					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGCCCAGAGAAATTCAACCAG	0.567000													14	594					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238722	57238722	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:57238722G>A	ENST00000537866.1	+	2	1025	c.152G>A	c.(151-153)gGa>gAa	p.G51E	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G51E			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	51						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GATGACAGTGGAACAGATGAC	0.552000													93	103					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589885	156589885	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:156589885G>A	ENST00000302938.4	-	2	1486	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	464						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGGAAGACGCTTTCTGATT	0.512000													94	72					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10659423	10659423	+	Splice_Site	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:10659423A>G	ENST00000356607.4	+	4	378	c.298_splice	c.e4+1	p.S100_splice	PEX14_ENST00000538836.1_Splice_Site_p.S36_splice	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	100					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCCATACAGTAAGTCACC	0.557000													16	74					0	0	1	0	0
MT-CO2	4513	broad.mit.edu	37	MT	7709	7709	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrM:7709C>T	ENST00000361739.1	+	1	124	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TCCTGTATGCCCTTTTCCTAA	0.433000													11	110					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65916138	65916138	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:65916138C>T	ENST00000321892.4	+	15	5875	c.5814C>T	c.(5812-5814)tcC>tcT	p.S1938S	BPTF_ENST00000335221.5_Silent_p.S1938S|BPTF_ENST00000424123.3_Silent_p.S1799S|BPTF_ENST00000306378.6_Silent_p.S1812S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1938					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGAAACATCCGAAACTGAAA	0.343000													42	14					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417153	7417153	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7417153C>T	ENST00000322644.6	+	29	5969	c.5570C>T	c.(5569-5571)tCt>tTt	p.S1857F		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1857	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCCAACCTCTCCCAAGTAC	0.567000													104	154					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43675666	43675666	+	Silent	SNP	A	A	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:43675666A>C	ENST00000264663.5	+	18	2909	c.2688A>C	c.(2686-2688)tcA>tcC	p.S896S	NNT_ENST00000344920.4_Silent_p.S896S|NNT_ENST00000512996.2_Silent_p.S765S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	896					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCACCACTTCAACAGCTGGTG	0.403000													21	44					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6031879	6031879	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6031879G>A	ENST00000546188.1	-	2	173	c.102C>T	c.(100-102)ctC>ctT	p.L34L	ANO2_ENST00000327087.8_Silent_p.L34L|ANO2_ENST00000356134.5_Silent_p.L34L			Q9NQ90	ANO2_HUMAN	anoctamin 2	38						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGCATCTTGAGACACTGCT	0.662000													6	6					0	0	1	0	0
AOC4P	0	broad.mit.edu	37	17	41019567	41019567	+	RNA	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:41019567C>T	ENST00000585538.1	+	0	406					NR_002773.1																						GCCCAGCCCTCGGACAACTGT	0.662000													103	38					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17710478	17710478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:17710478C>T	ENST00000380060.3	+	3	1080	c.742C>T	c.(742-744)Cga>Tga	p.R248*	NHS_ENST00000398097.3_Nonsense_Mutation_p.R71*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	248						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGCGATCGCCGAGAGCAAAG	0.532000													33	62					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45948052	45948052	+	Missense_Mutation	SNP	C	C	A	rs142831797		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:45948052C>A	ENST00000531526.1	+	9	1179	c.1068C>A	c.(1066-1068)ttC>ttA	p.F356L	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F356L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F356L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F83L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	356					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGAATTCTTCCGCAATTTCT	0.582000													36	5					9.17885e-22	1.08595e-21	1	1	0
NWD1	284434	broad.mit.edu	37	19	16872832	16872832	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:16872832C>T	ENST00000524140.2	+	8	2434	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NWD1_ENST00000379808.3_Silent_p.S672S|NWD1_ENST00000552788.1_Silent_p.S672S|NWD1_ENST00000523826.1_Silent_p.S466S|NWD1_ENST00000339803.6_Silent_p.S537S|NWD1_ENST00000549814.1_Silent_p.S672S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	672							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCAGGATCCGAGAGAGCCA	0.577000													13	38					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57535038	57535038	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:57535038delA	ENST00000371236.2	-	8	921	c.658delT	c.(658-660)atfs	p.Y220fs	DAB1_ENST00000371234.4_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	220					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TATACCTGATAAATGTTTTCT	0.423													47	43	---	---	---	---					
RP11-475O6.1	0	broad.mit.edu	37	1	84311093	84311093	+	RNA	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:84311093delA	ENST00000417975.1	-	0	178																											tgaaggtgagaaggggagaat	0.428													2	4	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109293	145109294	+	RNA	INS	-	-	A	rs7364468		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:145109293_145109294insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										caaaaaaaaagaaaaaaaaaaa	0.431													4	2	---	---	---	---					
AC011747.4	0	broad.mit.edu	37	2	8719216	8719216	+	RNA	DEL	C	C	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:8719216delC	ENST00000454224.1	-	0	213																											GACAGTGCTTCCCATCCCACC	0.572													2	4	---	---	---	---					
AC073283.4	0	broad.mit.edu	37	2	47550195	47550201	+	RNA	DEL	ACACTAC	ACACTAC	-	rs35466060	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:47550195_47550201delACACTAC	ENST00000419035.1	-	0	66																		p.0?(2)|p.?(1)									acactacactacactacacactacact	0.454													3	4	---	---	---	---					
AC007092.1	0	broad.mit.edu	37	2	59253914	59253915	+	RNA	DEL	GT	GT	-	rs61546892	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:59253914_59253915delGT	ENST00000452840.1	+	0	1053																											ATATGTGAGGgtgtgtgtgtgt	0.421													2	4	---	---	---	---					
AC097532.2	0	broad.mit.edu	37	2	133046597	133046597	+	RNA	DEL	A	A	-	rs111715068		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:133046597delA	ENST00000440802.1	-	0	101																											TCTGAGCTCGAGGCCCCCCAA	0.597													3	3	---	---	---	---					
RFC1	5981	broad.mit.edu	37	4	39304717	39304718	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr4:39304717_39304718delTC	ENST00000381897.1	-	16	2300_2301	c.2167_2168delGA	c.(2167-2169)tfs	p.D723fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.D722fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	723					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCATGCCATCTACTTCATCC	0.416													16	30	---	---	---	---					
MAP3K1	4214	broad.mit.edu	37	5	56178633	56178643	+	Frame_Shift_Del	DEL	CCCCATAGTTC	CCCCATAGTTC	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:56178633_56178643delCCCCATAGTTC	ENST00000399503.3	+	14	3606_3616	c.3606_3616delCCCCATAGTTC	c.(3604-3618)ctctfs	p.LPIVP1202fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1202					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGGATGCCCTCCCCATAGTTCCTCAGCTGCA	0.417													18	32	---	---	---	---					
RP11-420G6.4	0	broad.mit.edu	37	6	2871987	2871987	+	RNA	DEL	G	G	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:2871987delG	ENST00000545177.2	-	0	135																											ccagctacttgggaggctgag	0.562													2	4	---	---	---	---					
CTD-2281E23.3	0	broad.mit.edu	37	8	1197072	1197073	+	RNA	INS	-	-	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr8:1197072_1197073insA	ENST00000517950.1	-	0	308_309																											TCAGTGTGTGGAGTGATGGTCC	0.569													5	10	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68406251	68406251	+	RNA	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:68406251delA	ENST00000417843.2	-	0	224																											atcaatggggaaaagattccc	0.378													2	4	---	---	---	---					
LINC00842	0	broad.mit.edu	37	10	47119797	47119797	+	RNA	DEL	A	A	-	rs77634817		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:47119797delA	ENST00000422732.2	-	0	435					NR_033957.1																						ccataaaaataaaaaaAAAAA	0.303													4	4	---	---	---	---					
SPI1	6688	broad.mit.edu	37	11	47380277	47380278	+	Frame_Shift_Del	DEL	CA	CA	-	rs72160162		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:47380277_47380278delCA	ENST00000533968.1	-	4	743_744	c.610_611delTG	c.(610-612)cfs	p.C204fs	SPI1_ENST00000227163.4_Intron|SPI1_ENST00000533030.1_Intron|SPI1_ENST00000378538.3_Intron			P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	0					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		ggcaaacatgcacacacacaca	0.614													3	4	---	---	---	---					
RP4-601P9.2	0	broad.mit.edu	37	12	115174857	115174860	+	RNA	DEL	GTGT	GTGT	-	rs147888391		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:115174857_115174860delGTGT	ENST00000551875.1	+	0	541																											gtgtgtgtgcgtgtgtgtgtgtgt	0.564													3	2	---	---	---	---					
CHEK2P2	0	broad.mit.edu	37	15	20493961	20493961	+	RNA	DEL	T	T	-	rs71245182		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:20493961delT	ENST00000555186.1	+	0	568					NR_038836.1																						gctaatttaattttttttttt	0.488													5	3	---	---	---	---					
RP11-509A17.3	0	broad.mit.edu	37	15	20558347	20558348	+	RNA	DEL	TT	TT	-	rs147396717		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:20558347_20558348delTT	ENST00000557528.1	+	0	734_735																											tgggaggcaatttttttttttt	0.515													3	4	---	---	---	---					
HERC2P9	0	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaa	0.413													2	4	---	---	---	---					
CTA-481E9.3	0	broad.mit.edu	37	16	18245253	18245254	+	RNA	INS	-	-	AC	rs67600644		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:18245253_18245254insAC	ENST00000563866.1	-	0	48				CTA-481E9.4_ENST00000567304.1_lincRNA																							CCAACCTACCTacacacacaca	0.505													2	4	---	---	---	---					
RP11-454P7.3	0	broad.mit.edu	37	18	15197154	15197156	+	RNA	DEL	ACC	ACC	-	rs35960395	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr18:15197154_15197156delACC	ENST00000581666.1	-	0	256_258																											TTCTTTAATAACCACACTTTGTT	0.498													4	6	---	---	---	---					
RP4-760C5.5	0	broad.mit.edu	37	20	25937358	25937358	+	RNA	DEL	C	C	-	rs111987729		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:25937358delC	ENST00000449316.1	+	0	183																											ttggctgagacagaaagaaaa	0.438													3	3	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11048257	11048257	+	RNA	DEL	C	C	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:11048257delC	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACTCTTCTGCCCCCAAAGAT	0.318													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11066526	11066532	+	RNA	DEL	ATAACAT	ATAACAT	-	rs79906709	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:11066526_11066532delATAACAT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGTAAGAAAATAACATATAAccaggc	0.391													3	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11091025	11091026	+	RNA	INS	-	-	A	rs144528420		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:11091025_11091026insA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		agagaaggtagaagaggaggta	0.421													4	6	---	---	---	---					
MCM3AP-AS1	0	broad.mit.edu	37	21	47649744	47649745	+	RNA	INS	-	-	G	rs11379593	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:47649744_47649745insG	ENST00000414659.1	+	0	36				MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA																							GCAACAGGGCAGGGGGCGTCTG	0.569													3	3	---	---	---	---					
SRPK3	26576	broad.mit.edu	37	X	153050878	153050883	+	In_Frame_Del	DEL	CACAGT	CACAGT	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:153050878_153050883delCACAGT	ENST00000489426.1	+	21	4174_4179	c.1808_1813delCACAGT	c.(1807-1815)atc>a	p.TQF603del	SRPK3_ENST00000393786.3_In_Frame_Del_p.TQF502del|SRPK3_ENST00000370101.3_In_Frame_Del_p.TQF536del|SRPK3_ENST00000370100.1_In_Frame_Del_p.TQF461del|SRPK3_ENST00000370104.1_In_Frame_Del_p.TQF535del|SRPK3_ENST00000370108.3_In_Frame_Del_p.TQF503del			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	536					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAGGCCACACAGTTCAGCGCCTT	0.626													49	97	---	---	---	---					
